B. Franco and C. Thauvin-robinet, Update on oral-facial-digital syndromes (OFDS)
URL : https://hal.archives-ouvertes.fr/hal-01549073

, Cilia, vol.5, 2016.

A. Bruel, Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes, J. Med. Genet, vol.54, pp.371-380, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01553087

M. Romero, B. Franco, J. S. Del-pozo, and A. Romance, Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I

, Cleft Palate-Craniofacial J. Off. Publ. Am. Cleft Palate-Craniofacial Assoc, vol.44, pp.660-666, 2007.

M. Macca and B. Franco, The molecular basis of oral-facial-digital syndrome, vol.1

, Am. J. Med. Genet. C Semin. Med. Genet, vol.151, pp.318-325, 2009.

S. Saal, Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I, Clin. Genet, vol.77, pp.258-265, 2010.

H. V. Toriello, B. Franco, A. Bruel, and C. Thauvin-robinet, Oral-Facial-Digital Syndrome Type, 1993.

E. Del-giudice, CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study, Orphanet J. Rare Dis, vol.9, p.74, 2014.

M. I. Ferrante, Identification of the Gene for Oral-Facial-Digital Type I Syndrome

, Am. J. Hum. Genet, vol.68, pp.569-576, 2001.

W. M. Alkattan, M. M. Al-qattan, and S. A. Bafaqeeh, The pathogenesis of the clinical features of oral-facial-digital syndrome type I, Saudi Med. J, vol.36, pp.1277-1284, 2015.

H. V. Toriello, Are the oral-facial-digital syndromes ciliopathies?, Am. J. Med. Genet

A. , , pp.1089-1095, 2009.

J. Hunkapiller, V. Singla, A. Seol, and J. F. Reiter, The ciliogenic protein Oral-Facial

, Digital 1 regulates the neuronal differentiation of embryonic stem cells, Stem Cells Dev, vol.20, pp.831-841, 2011.

S. Odent, Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review, Am. J. Med. Genet, vol.75, pp.389-394, 1998.

M. M. Tagliani, M. R. Gomide, and C. F. Carrara, Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination, Cleft Palate

, Craniofacial J. Off. Publ. Am. Cleft Palate-Craniofacial Assoc, vol.47, pp.162-166, 2010.

I. J. Bisschoff, Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability, Hum. Mutat, vol.34, pp.237-247, 2013.

T. Driva, D. Franklin, and P. J. Crawford, Variations in expression of oral-facialdigital syndrome (type I): report of two cases, Int. J. Paediatr. Dent, vol.14, pp.61-68, 2004.

M. Melnick and E. D. Shields, Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. Oral Surg, Oral Med. Oral Pathol, vol.40, pp.599-610, 1975.

F. Öztürk and C. Doruk, Orthodontic treatment of a patient with oral-facial-digital syndrome, Am. J. Orthod. Dentofacial Orthop, vol.141, pp.110-118, 2012.

N. M. King and A. M. Sanares, Oral-facial-digital syndrome, Type I: a case report

, Clin. Pediatr. Dent, vol.26, pp.211-215, 2002.

J. J. Williamson, Oral-facial-digital syndrome, Aust. Dent. J, vol.11, pp.295-300, 1966.

J. A. Dodge and D. C. Kernohan, Oral-facial-digital syndrome, Arch. Dis. Child, vol.42, pp.214-219, 1967.

N. J. Burzynski, P. E. Podruch, and K. Snawder, Oral-facial-digital syndrome. A family case report. Oral Surg, Oral Med. Oral Pathol, vol.39, pp.735-741, 1975.

S. Sousa, Y. T. Kanaan, and D. D. , The oro-facial-digital syndrome--manifestations in the oral cavity--case report, Braz. Dent. J, vol.5, pp.71-74, 1994.

C. Thauvin-robinet, Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

, J. Med. Genet, vol.43, pp.54-61, 2005.

M. Larralde-de-luna, M. L. Raspa, and J. Ibargoyen, Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume, Pediatr. Dermatol, vol.9, pp.52-56, 1992.

M. M. Al-qattan, Cone-shaped epiphyses in the toes and trifurcation of the soft palate in oral-facial-digital syndrome type-I, Br. J. Plast. Surg, vol.51, pp.476-479, 1998.

A. K. Gedeon, C. Oley, J. Nelson, G. Turner, and J. C. Mulley, Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85, Am. J. Med

. Genet, , vol.82, pp.352-354, 1999.

A. Patrizi, C. Orlandi, I. Neri, F. Bardazzi, and G. Cocchi, What syndrome is this? Orofacio-digital type 1 syndrome of Papillon-Léage and Psaume, Pediatr. Dermatol, vol.16, pp.329-331, 1999.

C. Stoll and P. Sauvage, Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene, Ann. Genet, vol.45, pp.59-62, 2002.

T. Morisawa, Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts, Hum. Genet, vol.115, 2004.

O. Toprak, Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease, Nephrol. Dial. Transplant, vol.21, pp.1705-1709, 2006.

A. Nanda, A. Sharaf, and Q. A. Alsaleh, Multiple milia in a newborn with congenital malformations: oral-facial-digital syndrome type 1, Pediatr. Dermatol, vol.27, pp.669-670, 2010.

H. B. Hinen, R. M. Gathings, M. Shuler, and L. Lee, Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1, Pediatr. Dermatol, vol.35, pp.88-89, 2018.

M. P. Boldrini, María Elsa Giovo & Claudia Bogado. Síndrome orofaciodigital tipo I

T. Iijima, Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease, Arch. Argent. Pediatr, vol.55, pp.24-29, 2014.

K. Dhull, M. Mohanty, R. Dhull, S. Panda, and S. Acharya, Oro-facial-digital syndrome Type 1: A case report, J. Indian Soc. Pedod. Prev. Dent, vol.32, p.152, 2014.

A. Tuli, A. Singh, V. Sachdev, and A. Kumar, Physical and dental manifestations of oral-facial-digital syndrome type I, J. Indian Soc. Pedod. Prev. Dent, vol.29, p.83, 2011.

A. B. Singh, M. Girhotra, M. Goel, and S. Bhatia, Rare case of orofaciodigital syndrome type I. Case Rep, pp.2012007733-2012007733, 2013.

P. Diz, A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1: OFD1 gene mutations and oral phenotype, Oral Dis, vol.17, pp.610-614, 2011.

V. Shotelersuk, C. J. Tifft, S. Vacha, K. F. Peters, and L. G. Biesecker, Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls, Am. J. Med. Genet, vol.86, pp.269-273, 1999.

K. Shimojima, Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1: Challenges in genetic counseling of OFD1, Congenit. Anom, vol.53, pp.155-159, 2013.

T. Azukizawa, M. Yamamoto, S. Narumiya, and T. Takano, Oral-Facial-Digital

, Syndrome Type 1 With Hypothalamic Hamartoma and Dandy-Walker Malformation, Pediatr. Neurol, vol.48, pp.329-332, 2013.

E. Mihci, S. Tacoy, G. Ozbilim, and B. Franco, Oral-facial digital syndrome type 1

, Indian Pediatr, vol.44, pp.854-856, 2007.

C. Alby, In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses, Birth Defects Res, vol.110, pp.382-389, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01662369

R. J. Gorlin, Orofacialdigital syndrome I, Birth defects atlas and compendium 703, 1973.